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DOI: 10.1055/a-0655-7659
Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus
Immune-mediated / inflammatory and hereditary neuropathies – overview and diagnostic algorithmPublikationsverlauf
eingereicht 26. Juni 2018
akzeptiert 05. Juli 2018
Publikationsdatum:
24. September 2018 (online)
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Zusammenfassung
Diese Arbeit gibt eine praxisnahe Übersicht über immunvermittelte / inflammatorische und hereditäre Neuropathien mit Empfehlungen zur weiterführenden Diagnostik. Zur großen Gruppe der immunvermittelten / inflammatorischen Neuropathien zählen u. a. das Guillain-Barré-Syndrom und die chronisch-inflammatorische demyelinisierende Polyradikuloneuropathie mit ihren Subtypen, die vaskulitischen, paraneoplastischen, paraproteinämischen und die Kollagenose-assoziierten Neuropathien. Neben den klinischen Besonderheiten wie zeitlichem Verlauf und Verteilungstyp werden charakteristische Befunde der Elektroneurografie und Antikörper-Diagnostik berücksichtigt. Bei den hereditären Neuropathien sprechen neue Studien für eine Prävalenz von 10–28 pro 100 000 Einwohner in Europa. In den letzten 20 Jahren hat die molekulargenetische Diagnostik bei hereditären Neuropathien große Fortschritte gemacht. Mittlerweile sind über 80 Neuropathie-Gene bekannt. Neben der elektroneurografischen Einteilung in demyelinisierende, axonale und intermediäre Formen sind die Unterscheidung in sensomotorische, motorische, sensible oder autonom-sensible Neuropathien sowie die Berücksichtigung von klinischen Besonderheiten und ethnischer Zugehörigkeit hilfreich für die Bahnung der molekulargenetischen Diagnostik.
Abstract
This paper is a practical survey of immune-mediated, inflammatory and hereditary neuropathies along with recommendations for diagnostic procedures. The large group of immune-mediated, inflammatory neuropathies includes the Guillain-Barré syndrome and chronic-inflammatory demyelinating polyradiculoneuropathy and their subtypes, vasculitic, paraneoplastic and paraproteinemic neuropathies as well as neuropathies resulting from connective tissue disorders. Besides clinical features such as time-dependent progression and distribution of sensorimotor deficits, characteristic electroneurographic findings and antibody profiles are considered. Recent studies in hereditary neuropathies reveal a prevalence of 10–28 out of 100 000 persons in Europe. Research into the genetic causes has made significant progress in the last 20 years; up to now more than 80 genes mutated in hereditary neuropathies have been identified. Besides classification into axonal, demyelinating or intermediate neuropathies based on electroneurography, distinguishing between sensorimotor, pure motor and (autonomous) sensory neuropathies as well as consideration of particular clinical features and ethnic origin can be helpful in orientating molecular genetic analysis.
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